Canonical Allele Identifier: CA298925

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 182370
• ClinVar RCV Id: RCV002267893 ; RCV003315957 ; RCV003492651
• dbSNP Id: rs730881648
• ExAC: 17:59934528 GCATGCACAACAA / G
• gnomAD v2: 17-59934528-GCATGCACAACAA-G
• gnomAD v3: 17-61857167-GCATGCACAACAA-G
• gnomAD v4: 17-61857167-GCATGCACAACAA-G
• COSMIC: COSM4579943 ; COSM4579944
• MyVariant Identifiers: chr17:g.59934529_59934540del (hg19) ; chr17:g.61857168_61857179del (hg38)
• PubMed: PMID:25318351

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61857172_61857183del , CM000679.2:g.61857172_61857183del	GRCh38
NC_000017.10:g.59934533_59934544del , CM000679.1:g.59934533_59934544del	GRCh37
NC_000017.9:g.57289315_57289326del	NCBI36
NG_007409.2:g.11381_11392del , LRG_300:g.11381_11392del

Transcript Alleles

HGVS	Amino-acid change
ENST00000577913.2:c.258_269del	ENSP00000462274.2:p.Cys87_Cys90del
ENST00000584322.2:c.258_269del	ENSP00000463272.2:p.Cys87_Cys90del
ENST00000682369.1:c.258_269del	ENSP00000507450.1:p.Cys87_Cys90del
ENST00000682453.1:c.258_269del	ENSP00000506943.1:p.Cys87_Cys90del
ENST00000682477.1:c.258_269del	ENSP00000507075.1:p.Cys87_Cys90del
ENST00000682589.1:n.1999_2010del
ENST00000682755.1:c.258_269del	ENSP00000507660.1:p.Cys87_Cys90del
ENST00000682989.1:c.258_269del	ENSP00000507786.1:p.Cys87_Cys90del
ENST00000683039.1:c.258_269del	ENSP00000508303.1:p.Cys87_Cys90del
ENST00000683235.1:c.258_269del	ENSP00000507646.1:p.Cys87_Cys90del
ENST00000683381.1:c.258_269del	ENSP00000508184.1:p.Cys87_Cys90del
ENST00000683672.1:c.-40_-29del	ENSP00000506781.1:n.-40_-29del
ENST00000259008.7:c.258_269del MANE Select	ENSP00000259008.2:p.Cys87_Cys90del
ENST00000259008.6:c.258_269del	ENSP00000259008.2:p.Cys87_Cys90del
ENST00000577598.5:c.258_269del	ENSP00000464654.1:p.Cys87_Cys90del
NM_032043.2:c.258_269del , LRG_300t1:c.258_269del	NP_114432.2:p.Cys87_Cys90del
XM_011525332.1:c.258_269del	XP_011523634.1:p.Cys87_Cys90del
XM_011525333.1:c.258_269del	XP_011523635.1:p.Cys87_Cys90del
XM_011525334.1:c.258_269del	XP_011523636.1:p.Cys87_Cys90del
XM_011525335.1:c.258_269del	XP_011523637.1:p.Cys87_Cys90del
XM_011525336.1:c.258_269del	XP_011523638.1:p.Cys87_Cys90del
XM_011525337.1:c.258_269del	XP_011523639.1:p.Cys87_Cys90del
XM_011525338.1:c.-98_-87del	XP_011523640.1:n.-98_-87del
XM_011525339.1:c.258_269del	XP_011523641.1:p.Cys87_Cys90del
XM_011525340.1:c.258_269del	XP_011523642.1:p.Cys87_Cys90del
XM_011525341.1:c.258_269del	XP_011523643.1:p.Cys87_Cys90del
XM_011525332.3:c.258_269del	XP_011523634.1:p.Cys87_Cys90del
XM_011525333.3:c.258_269del	XP_011523635.1:p.Cys87_Cys90del
XM_011525334.2:c.258_269del	XP_011523636.1:p.Cys87_Cys90del
XM_011525335.3:c.258_269del	XP_011523637.1:p.Cys87_Cys90del
XM_011525336.2:c.258_269del	XP_011523638.1:p.Cys87_Cys90del
XM_011525337.2:c.258_269del	XP_011523639.1:p.Cys87_Cys90del
XM_011525339.3:c.258_269del	XP_011523641.1:p.Cys87_Cys90del
XM_011525340.3:c.258_269del	XP_011523642.1:p.Cys87_Cys90del
XM_011525341.3:c.258_269del	XP_011523643.1:p.Cys87_Cys90del
NM_032043.3:c.258_269del MANE Select	NP_114432.2:p.Cys87_Cys90del